Document Type

Article

Publication Date

12-1-2018

Identifier

PMCID: PMC6626706 DOI: 10.1016/j.siny.2018.08.006

Abstract

The role of genetics in the pathogenesis of necrotizing enterocolitis (NEC) was initially informed by epidemiological data indicating differences in prevalence among different ethnic groups as well as concordance in twins. These early observations, together with major advances in genomic research, paved the way for studies that begin to reveal the contribution of genetics to NEC. Using the candidate gene or pathway approach, several potential pathogenic variants for NEC in premature infants have already been identified. More recently, genome-wide association studies and exome-sequencing based studies for NEC have been reported. These advances, however, are tempered by the lack of adequately powered replication cohorts to validate the accuracy of these discoveries. Despite many challenges, genetic research in NEC is expected to increase, providing new insights into its pathogenesis and bringing the promise of personalized care closer to reality. In this review we provide a summary of genetic studies in NEC along with defining the challenges and possible future approaches.

Journal Title

Seminars in fetal & neonatal medicine

Volume

23

Issue

6

First Page

387

Last Page

393

MeSH Keywords

Enterocolitis, Necrotizing; Genetic Loci; Genetic Predisposition to Disease; Genotype; Humans; Infant, Newborn; Infant, Premature

Keywords

Genetic predisposition; Necrotizing enterocolitis; Preterm infants; Single nucleotide polymorphisms; Toll-like receptors

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